Linked Data
ClinVar Variation Id:
618474
dbSNP Id:
rs374146074
ExAC:
1:216040416 C / A
gnomAD v2:
1-216040416-C-A
gnomAD v3:
1-215867074-C-A
gnomAD v4:
1-215867074-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867074C>A , CM000663.2:g.215867074C>A | GRCh38 |
| NC_000001.10:g.216040416C>A , CM000663.1:g.216040416C>A | GRCh37 |
| NC_000001.9:g.214107039C>A | NCBI36 |
| NG_009497.1:g.561323G>T | |
| NG_009497.2:g.561375G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8778G>T MANE Select | ENSP00000305941.3:p.Glu2926Asp | |
| ENST00000674083.1:c.8778G>T | ENSP00000501296.1:p.Glu2926Asp | |
| ENST00000307340.7:c.8778G>T | ENSP00000305941.3:p.Glu2926Asp | |
| NM_206933.2:c.8778G>T | NP_996816.2:p.Glu2926Asp | |
| NM_206933.3:c.8778G>T | NP_996816.2:p.Glu2926Asp | |
| NM_206933.4:c.8778G>T MANE Select | NP_996816.3:p.Glu2926Asp |